Traits

Traits linked to COX6B1

cytochrome c oxidase subunit 6B1

The Human Phenotype Ontology links 59 traits to COX6B1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
High blood ammonia levels	Always
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always
Increased lactate in body	Always
Increased level of ketone bodies in blood	Always
Metabolic acidosis	Always
Abnormal urinary amino-acid findings	Not recorded
Glucose in urine	Not recorded
High urine phosphate levels	Not recorded
High urine protein levels	Not recorded
Increased CSF lactate	Not recorded
Increased hepatocellular lipid droplets	Not recorded
Increased intramyocellular lipid droplets	Not recorded
Renal Fanconi syndrome	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Brisk reflexes	Always
Instability or lack of coordination of central trunk muscles	Always
Leukodystrophy	Always
Loss of developmental milestones	Always
Mental deterioration	Always
Ventriculomegaly	Always
Epilepsy	Not recorded
Global developmental delay	Not recorded
Intellectual disability	Not recorded
Leukoencephalopathy	Not recorded
Limb ataxia	Not recorded
Motor delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Optic atrophy	Always
Visual loss	Always
Weakness of muscles controlling eye movement	Always
Drooping upper eyelid	Not recorded
Pigmentary retinopathy	Not recorded
Undetectable visual evoked potentials	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Enlarged heart	Always
Increased blood pressure in blood vessels of lungs	Always
Tricuspid regurgitation	Always
Ventricular hypertrophy	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always
Generalized decreased muscle tone	Always
Low muscle tone	Always
Muscle weakness	Always
Decreased lung function due to weak breathing muscles	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Decreased liver function	Not recorded
Enlarged liver	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Breathing difficulties	Not recorded
Exertional breathlessness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Not recorded
Weakness of facial musculature	Not recorded

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Not recorded
Muscle ache	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to COX6B1 and how often each is seen. Find out more at hpo.jax.org.

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